RESUMO
Familial hypertriglyceridemia (FHTG) is an uncommon primary (genetic) dyslipidemia. FHTG is characterized by moderately elevated serum triglycerides, usually in the absence of significant hypercholesterolemia and rarely manifests in childhood. We report an eight-month-old boy incidentally diagnosed as a case of FHTG due to lipemic serum (patient was admitted for malaria with anemia). He had elevated serum triglycerides with normal serum cholesterol, but had no symptoms related to the primary disorder (FHTG).
Assuntos
Anemia/complicações , Colesterol/sangue , Diagnóstico Diferencial , Dieta com Restrição de Gorduras , Humanos , Hipertrigliceridemia/complicações , Lactente , Lipídeos/sangue , Malária/complicações , Masculino , Resultado do Tratamento , Triglicerídeos/sangueRESUMO
Tyrosinemia is a rare paediatric metabolic liver disorder. A 15-days-old neonate born of a third degree consanguineous marriage presented with jaundice due to tyrosinemia, which progressed to fatal hepatic encephalopathy. The diagnosis was based on very high alpha-fetoprotein level, with urine aminoacidogram revealing tyrosine spot and liver biopsy depicting cirrhosis. Very early neonatal presentation and rapid progression were the unusual features of this case.